(Q36610899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Novel molecular therapies for heritable skin disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

John Mcgrath

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Angela M Christiano

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jouni Uitto

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

8 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

820-828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

3 Pt 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jid.2011.389

18 January 2020

exact match

0 references

cites work

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

1 reference

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Immunogenicity of induced pluripotent stem cells

30 September 2017

1 reference

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Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.

30 September 2017

1 reference

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Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.

30 September 2017

1 reference

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PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

30 September 2017

1 reference

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The phenotypic and molecular genetic features of pachyonychia congenita

30 September 2017

1 reference

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Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita

30 September 2017

1 reference

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Revertant mosaicism in skin: natural gene therapy

30 September 2017

1 reference

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Zebrafish: a model system to study heritable skin diseases

30 September 2017

1 reference

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Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa

30 September 2017

1 reference

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Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.

30 September 2017

1 reference

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Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

30 September 2017

1 reference

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Stem cell therapies for recessive dystrophic epidermolysis bullosa.

30 September 2017

1 reference

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Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Bone marrow stem cell therapy for recessive dystrophic epidermolysis bullosa.

30 September 2017

1 reference

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Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

The future is much closer collaboration between the pharmaceutical industry and academic medical centers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Progress in epidermolysis bullosa research: toward treatment and cure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Animal models of epidermolysis bullosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

30 September 2017

1 reference

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Adenoviral gene delivery can reprogram human fibroblasts to induced pluripotent stem cells

30 September 2017

1 reference

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Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

30 September 2017

1 reference

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Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells

30 September 2017

1 reference

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Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins

30 September 2017

1 reference

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Human induced pluripotent stem cells free of vector and transgene sequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Generation of mouse induced pluripotent stem cells without viral vectors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Zinc-finger nucleases: the next generation emerges

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Induced pluripotent stem cell lines derived from human somatic cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Development of therapeutic siRNAs for pachyonychia congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Generation of germline-competent induced pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Animal models of human disease: zebrafish swim into view

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

RNAi therapeutics: a potential new class of pharmaceutical drugs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Molecular basis of inherited skin-blistering disorders, and therapeutic implications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Challenges in developing therapies for rare diseases including pachyonychia congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Gene therapy for autosomal dominant disorders of keratin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Animal models of epidermolysis bullosa--targets for gene therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Intermediate filament proteins and their associated diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Progress in heritable skin diseases: molecular bases and clinical implications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Functional redundancy of extracellular matrix protein 1 in epidermal differentiation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Zebrafish penner/lethal giant larvae 2 functions in hemidesmosome formation, maintenance of cellular morphology and growth regulation in the developing basal epidermis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Type VII collagen gene expression by human skin fibroblasts and keratinocytes in culture: influence of donor age and cytokine responses

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

A functional "knockout" of human keratin 14.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Phenotypic and genotypic analyses of genetic skin disease through the Online Mendelian Inheritance in Man (OMIM) database

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572786

Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa

20 September 2018

1 reference

12 December 2020

Animal models of epidermolysis bullosa: update 2010

1 reference

12 December 2020

Regenerative medicine for skin diseases: iPS cells to the rescue

1 reference

12 December 2020

A Large Mutational Study in Pachyonychia Congenita

1 reference

12 December 2020

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

1 reference

12 December 2020

Cell-based therapy for RDEB: how does it work?

1 reference

12 December 2020

Treatment of Chronic Wounds With Bone Marrow–Derived Cells

1 reference

12 December 2020

Participation of bone marrow derived cells in cutaneous wound healing

1 reference

12 December 2020

Epidermolysis bullosa acquisita antigen is synthesized by both human keratinocytes and human dermal fibroblasts

1 reference

12 December 2020

Why academic drug discovery makes sense

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2011.389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22158553%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference